DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs61751035 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs61751035

rs61751035

RPS6KC1

0.882

0.160

1

213242186

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C0023529
Disease:	Leukomalacia, Periventricular

Leukomalacia, Periventricular

0.700

dbSNP:

rs61751035

rs61751035

RPS6KC1

0.882

0.160

1

213242186

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C0948163
Disease:	Leukoaraiosis

Leukoaraiosis

0.700

dbSNP:

rs61751035

rs61751035

RPS6KC1

0.882

0.160

1

213242186

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C1277241
Disease:	Delayed myelination

Delayed myelination

0.700

dbSNP:

rs61751035

rs61751035

RPS6KC1

0.882

0.160

1

213242186

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs61751035

rs61751035

RPS6KC1

0.882

0.160

1

213242186

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs61751035

rs61751035

RPS6KC1

0.882

0.160

1

213242186

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C0344482
Disease:	Hypoplasia of corpus callosum

Hypoplasia of corpus callosum

0.700